Feb 11, 2022

Researchers introduce into human cells a genetic mutation that protects against Alzheimer’s disease

Posted by in categories: bioengineering, biotech/medical, genetics, neuroscience


The Neuro-Network.

𝐑𝐞𝐬𝐞𝐚𝐫𝐜𝐡𝐞𝐫𝐬 𝐢𝐧𝐭𝐫𝐨𝐝𝐮𝐜𝐞 𝐢𝐧𝐭𝐨 𝐡𝐮𝐦𝐚𝐧 𝐜𝐞𝐥𝐥𝐬 𝐚 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧 𝐭𝐡𝐚𝐭 𝐩𝐫𝐨𝐭𝐞𝐜𝐭𝐬 𝐚𝐠𝐚𝐢𝐧𝐬𝐭 𝐀𝐥𝐳𝐡𝐞𝐢𝐦𝐞𝐫’𝐬 𝐝𝐢𝐬𝐞𝐚𝐬𝐞

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Researchers from the Université Laval Faculty of Medicine and CHU de Québec–Université Laval Research Center have successfully edited the genome of human cells grown in vitro to introduce a mutation providing protection against Alzheimer’s disease. The details of this breakthrough were recently published in The CRISPR Journal.

“Some increase the risk of developing Alzheimer’s disease, but there is a mutation that reduces this risk,” says lead author Professor Jacques-P. Tremblay. “This is a rare mutation identified in 2012 in the Icelandic population. The mutation has no known disadvantage for those who carry it and reduces the risk of developing Alzheimer’s disease. Using an improved version of the CRISPR gene editing tool, we have been able to edit the genome of human cells to insert this mutation.”

The brains of those with Alzheimer’s present amyloid plaques, which have a level of toxicity believed to cause neuron death. These plaques are formed when the is cleaved by an enzyme called beta-secretase. “The Icelandic mutation makes it harder for this enzyme to cleave the amyloid precursor protein. As a result, the formation of amyloid plaques is reduced,” explains Professor Tremblay.

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